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O5‐04‐03: IDENTIFICATION OF DIFFERENTIALLY EXPRESSED GENES AND POTENTIALLY NOVEL DRUGS FOR FRONTOTEMPORAL LOBAR DEMENTIA WITH TAU INCLUSIONS BY A DEPENDABLE ANALYSIS APPROACH
Author(s) -
Jiang Shan,
Li Zeran,
Harari Oscar,
Budde John P.,
Dube Umber,
Del Aguila Jorge,
Cruchaga Carlos,
Karch Celeste
Publication year - 2018
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2018.06.3015
Subject(s) - frontotemporal lobar degeneration , biology , gene , frontotemporal dementia , tau protein , genetics , induced pluripotent stem cell , dementia , alzheimer's disease , neuroscience , disease , pathology , medicine , embryonic stem cell
19:1054190:A:G 5 0 ABCA7 rs376824416 Splice Acceptor HIGH 21.7 17:42429772:C:T 4 0 GRN Novel Stop Gained HIGH 18.4 GRN gene is associated with Frontotemporal Lobar Degeneration (Hsiungand and Feldman, 2013). 19:1058154:G:T 4 0 ABCA7 Novel Stop Gained HIGH 37 Found to be highly significant in Caucasian LOAD cases with r 1⁄4 5.3E-04 (Vardarajan et al., 2015). 6:41129295:G:A 4 0 TREM2 rsl04894002 Stop Gained HIGH 5.353 Seen to contribute to AD risk (Lu, Liu, and Wang, 2015). Reported previously in 2/ 1,084 AD cases (and 0 controls) in TREM2 sequencing study of EA subjects (Guerreiro et al., 2013). Recently linked to Nasu-Hakola disease, an autosomal recessive disorder characterized by dementia and multifocal bone cysts (Ghezzi et al., 2017). Several years earlier, described in homozygous form in a proband of Turkish family with frontotemporal dementia-like syndrome without bone involvement (Guerreiro et al., 2013)